Zobrazeno 1 - 10
of 292
pro vyhledávání: '"newborn screening (NBS)"'
Autor:
Eleonora Bonaventura, Luisella Alberti, Simona Lucchi, Laura Cappelletti, Salvatore Fazzone, Elisa Cattaneo, Matteo Bellini, Giana Izzo, Cecilia Parazzini, Alessandra Bosetti, Elisabetta Di Profio, Giulia Fiore, Matilde Ferrario, Chiara Mameli, Arianna Sangiorgio, Silvia Masnada, Gian Vincenzo Zuccotti, Pierangelo Veggiotti, Luigina Spaccini, Maria Iascone, Elvira Verduci, Cristina Cereda, Davide Tonduti, XALD-NBS Study Group, Gianluca Lista, Paola Fontana, Tiziana Varisco, Olivia Casati, Alberto Fabio Podestà, Maddalena Gibelli, Stefano Martinelli, Roberta Restelli, Laura Maria Pogliani, Roberta Agistri, Marco Giuseppe Nedbal, Paolo Vaglia, Chryssoula Tzialla, Luisa Magnani, Elena Sala, Laura Lorioli, Giuseppe Banderali, Diana Ghisleni, Bruno Drera, Marta Frittoli, Francesca Lizzoli, Marta Bellini, Paola Bruni, Ilaria Giulini, Valentina Benedetti, Valentina Polimeni, Nadia Salvoni, Masotina Raffaele, Cristina Bellan, Roberto Bottino, Graziano Barera, Antonella Poloniato, Marta Odoni, Ilaria Dalla Verde, Massimo Agosti, Angela Bossi, Anna Tosi, Anna Elisabetta Bussolini, Francesco Maria Risso, Vania Spinoni, Nicola Altamura, Patrizia Ballista, Silvia Di Chio, Luciana Pagani, Lidia Decembrino, Michela Grignani, Grazia Morandi, Valeria Angela Fasolato, Lorella Rossi, Emilio Palumbo, Alessandro Lepore, Maria Forestieri, Stefano Ghirardello, Elisa Civardi, Paolo Adamoli, Roberta Giacchero, Giovanni Traina, Patrizia Calzi, Fenesia Pedace, Marco Sala
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/3fe63f5679824882a78a685fa671eea6
Autor:
Ryan Colburn, David Lapidus
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2024)
This study includes over 11.6M newborns screened (NBS) for Pompe Disease (PD) from 29 distinct universal screening programs across 8 countries and 4 continents. The birth prevalence of PD is 1:18,711, with no evidence of difference across populations
Externí odkaz:
https://doaj.org/article/3aa0d14cc7d64de3aada79283356595b
Autor:
Allison P. Plaxco, Jane S. Hankins, Robert Davis, Judy Dudley, Amanda J. Young, Ayesha Mukhopadyay, Yvonne Carroll, Maria del Pilar Aguinaga, Clifford M. Takemoto, Vikki G. Nolan, Meredith A. Ray, Andrew Wiese, Tobi Amosun, William O. Cooper, Matthew P. Smeltzer
Publikováno v:
Frontiers in Hematology, Vol 2 (2023)
IntroductionThe Sickle Cell Data Collection Program (SCDC) is a multi-state initiative utilizing multiple data sources to estimate population prevalence of Sickle Cell Disease (SCD) with the goal of improving quality of life and health outcomes among
Externí odkaz:
https://doaj.org/article/c387170fdd434b828710a47c0f48af91
Autor:
Mei Lietsch, Kee Chan, Jennifer Taylor, Bo Hoon Lee, Emma Ciafaloni, Jennifer M. Kwon, Megan A. Waldrop, Russell J. Butterfield, Geetanjali Rathore, Aravindhan Veerapandiyan, Arya Kapil, Julie A. Parsons, Melissa Gibbons, Amy Brower
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 2, p 34 (2024)
In the United States and around the world, newborns are screened on a population basis for conditions benefiting from pre-symptomatic diagnosis and treatment. The number of screened conditions continues to expand as novel technologies for screening,
Externí odkaz:
https://doaj.org/article/a370ea9ee98f4cf2a11e3bc0b6be66b6
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 2, p 33 (2024)
Screening newborns using genome sequencing is being explored due to its potential to expand the list of conditions that can be screened. Previously, we proposed the need for large-scale pilot studies to assess the feasibility of screening highly pene
Externí odkaz:
https://doaj.org/article/7b3098a5c6b841b1b643b4efb47f77df
Autor:
Georgina Morton, Sophie Thomas, Pat Roberts, Vivienne Clark, Jackie Imrie, Alexandra Morrison
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Abstract Metachromatic Leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme arylsulfatase A (ARSA). MLD causes progressive loss of motor function and severe decline in cognitive function,
Externí odkaz:
https://doaj.org/article/bde73c3fe9f948f78e52fc315e536c04
Autor:
Ahmad N. Alodaib, Refat M. Nimer, Rowan Alhumaidy, Alaa Alhenaky, Mai Abdel Jabar, Reem H. AlMalki, Anas M. Abdel Rahman
Publikováno v:
Frontiers in Molecular Biosciences, Vol 10 (2023)
Introduction:Galactosemia (GAL) is a genetic disorder that results in disturbances in galactose metabolism and can lead to life-threatening complications. However, the underlying pathophysiology of long-term complications in GAL remains poorly unders
Externí odkaz:
https://doaj.org/article/3979c55d10894baab3775bb8ccfe53a6
Autor:
Orna Staretz-Chacham, Nadirah S. Damseh, Suha Daas, Nasser Abu Salah, Yair Anikster, Ortal Barel, Elena Dumin, Aviva Fattal-Valevski, Tzipora C. Falik-Zaccai, Eli Hershkovitz, Sagi Josefsberg, Yuval Landau, Tally Lerman-Sagie, Hanna Mandel, Rachel Rock, Nira Rostami, Talya Saraf-Levy, Nava Shaul Lotan, Ronen Spiegel, Galit Tal, Igor Ulanovsky, Yael Wilnai, Stanley H. Korman, Shlomo Almashanu
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Hereditary orotic aciduria is an extremely rare, autosomal recessive disease caused by deficiency of uridine monophosphate synthase. Untreated, affected individuals may develop refractory megaloblastic anemia, neurodevelopmental disabil
Externí odkaz:
https://doaj.org/article/a4eeec32a8884c4395e424f817425fe1
Publikováno v:
Endocrines, Vol 3, Iss 1, Pp 107-114 (2022)
Two endocrine disorders, congenital hypothyroidism (CH) and congenital adrenal hyperplasia (CAH), when untreated, can have devastating, irreversible and fatal outcomes. Permanent cognitive impairment, growth failure and dysmorphic appearance are seen
Externí odkaz:
https://doaj.org/article/70f940d215314b6cb9f540d0e0a90c0a
Autor:
Andrea Xue, István Lénárt, Judit Kincs, Hajnalka Szabó, Andrea Párniczky, István Balogh, Anna Deák, Péter Béla Monostori, Krisztina Hegedűs, Attila J. Szabó, Ildikó Szatmári
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 3, p 47 (2023)
The aim of this study is to evaluate the strategy of the cystic fibrosis newborn screening (CFNBS) programme in Hungary based on the results of the first year of screening. A combined immunoreactive trypsinogen (IRT) and pancreatitis-associated prote
Externí odkaz:
https://doaj.org/article/33e10d86ad0c4f319a9b3710cff1f77c